Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 Biomarker disease HPO
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 AlteredExpression disease BEFREE Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB). 15532022 2004
Entrez Id: 388007
Gene Symbol: SERPINA13P
SERPINA13P 		0.010 Biomarker disease BEFREE Protease inhibitor typing was not conclusive, presumably because of impaired N-glycosylation secondary to HFI. 10869005 2000
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 2336380 1990
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 2336380 1990
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease UNIPROT A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. 2336380 1990
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR A partially active mutant aldolase B from a patient with hereditary fructose intolerance. 8299883 1994
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease UNIPROT A partially active mutant aldolase B from a patient with hereditary fructose intolerance. 8299883 1994
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR A partially active mutant aldolase B from a patient with hereditary fructose intolerance. 8299883 1994
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Aldolase B and fructose intolerance. 8299892 1994
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. 16406649 2006
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. 16406649 2006
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Aldolase B mutations in Italian families affected by hereditary fructose intolerance. 1856829 1991
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Alteration of substrate specificity by a naturally-occurring aldolase B mutation (Ala337-->Val) in fructose intolerance. 10229688 1999
Entrez Id: 3240
Gene Symbol: HP
HP 		0.010 Biomarker disease BEFREE Although secondary glycosylation defects such as alcoholism, untreated fructosemia and bacterial neuraminidase remain to be excluded, we showed that 2-DE pattern of haptoglobin β glycoforms thus constitute a very reliable additional biomarker of all types of CDGs. 28457853 2017
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation disease CLINVAR ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. 23606453 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation disease CLINVAR ANO5-muscular dystrophy: clinical, pathological and molecular findings. 23663589 2013
Entrez Id: 203859
Gene Symbol: ANO5
ANO5 		0.100 CausalMutation disease CLINVAR Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. 23670307 2013
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene. 8096362 1993
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 GeneticVariation disease CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398 2011
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 Biomarker disease CTD_human Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. 3383242 1988
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB 		0.770 CausalMutation disease CLINVAR Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation. 3383242 1988